COACH syndrome

WikiDoc Resources for COACH syndrome
Articles
Most recent articles on COACH syndrome Most cited articles on COACH syndrome Review articles on COACH syndrome Articles on COACH syndrome in N Eng J Med, Lancet, BMJ
Media
Powerpoint slides on COACH syndrome Images of COACH syndrome Photos of COACH syndrome Podcasts & MP3s on COACH syndrome Videos on COACH syndrome
Evidence Based Medicine
Cochrane Collaboration on COACH syndrome Bandolier on COACH syndrome TRIP on COACH syndrome
Clinical Trials
Ongoing Trials on COACH syndrome at Clinical Trials.gov Trial results on COACH syndrome Clinical Trials on COACH syndrome at Google
Guidelines / Policies / Govt
US National Guidelines Clearinghouse on COACH syndrome NICE Guidance on COACH syndrome NHS PRODIGY Guidance FDA on COACH syndrome CDC on COACH syndrome
Books
Books on COACH syndrome
News
COACH syndrome in the news Be alerted to news on COACH syndrome News trends on COACH syndrome
Commentary
Blogs on COACH syndrome
Definitions
Definitions of COACH syndrome
Patient Resources / Community
Patient resources on COACH syndrome Discussion groups on COACH syndrome Patient Handouts on COACH syndrome Directions to Hospitals Treating COACH syndrome Risk calculators and risk factors for COACH syndrome
Healthcare Provider Resources
Symptoms of COACH syndrome Causes & Risk Factors for COACH syndrome Diagnostic studies for COACH syndrome Treatment of COACH syndrome
Continuing Medical Education (CME)
CME Programs on COACH syndrome
International
COACH syndrome en Espanol COACH syndrome en Francais
Business
COACH syndrome in the Marketplace Patents on COACH syndrome
Experimental / Informatics
List of terms related to COACH syndrome

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Synonyms and keywords: Joubert syndrome with hepatic defect; cerebellar vermis hypoplasia - oligophrenia - congenital ataxia - coloboma - hepatic fibrosis; gentile syndrome; Joubert syndrome with congenital hepatic fibrosis;

Overview

Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of Joubert syndrome associated with congenital hepatic fibrosis (CHF). The age of onset and severity of hepatic manifestations is variable. Some patients may also present chorioretinal or optic nerve colobomas and nephronophthisis (NPH), but these are not mandatory features.

Pathophysiology

Genetics

Over 70% of cases are due to mutations in the TMEM67 gene (8q22.1). Transmission is autosomal recessive.

Epidemiology and Demographics

Prevalence is unknown.

References

Template:WikiDoc Sources